Linked Data
ClinVar Variation Id:
2891266
ClinVar RCV Id:
RCV003648809
gnomAD v4:
1-218437400-A-G
MyVariant Identifiers:
chr1:g.218610742A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437400A>G , CM000663.2:g.218437400A>G | GRCh38 |
| NC_000001.10:g.218610742A>G , CM000663.1:g.218610742A>G | GRCh37 |
| NC_000001.9:g.216677365A>G | NCBI36 |
| NG_027721.1:g.97067A>G | |
| NG_027721.2:g.97067A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.990A>G MANE Select | ENSP00000355897.4:p.Leu330= | |
| ENST00000366929.4:c.1074A>G | ENSP00000355896.4:p.Leu358= | |
| ENST00000366930.8:c.990A>G | ENSP00000355897.4:p.Leu330= | |
| ENST00000479322.1:n.474A>G | ||
| NM_001135599.2:c.1074A>G | NP_001129071.1:p.Leu358= | |
| NM_003238.3:c.990A>G | NP_003229.1:p.Leu330= | |
| NM_001135599.3:c.1074A>G | NP_001129071.1:p.Leu358= | |
| NM_003238.4:c.990A>G | NP_003229.1:p.Leu330= | |
| NR_138148.1:n.2293A>G | ||
| NR_138149.1:n.2377A>G | ||
| NM_003238.5:c.990A>G | NP_003229.1:p.Leu330= | |
| NM_003238.6:c.990A>G MANE Select | NP_003229.1:p.Leu330= | |
| NM_001135599.4:c.1074A>G | NP_001129071.1:p.Leu358= | |
| NR_138148.2:n.2241A>G | ||
| NR_138149.2:n.2325A>G |